Mutagenetix > Incidental Mutation

Incidental Mutation 'R1799:Nisch'

202965

Institutional Source

Beutler Lab

Gene Symbol

Nisch

Ensembl Gene

ENSMUSG00000021910

Gene Name

nischarin

Synonyms

1200007D05Rik, edsn, 3202002H23Rik

MMRRC Submission

039829-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1799 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30892885-30928783 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 30899228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000167449] [ENSMUST00000168206] [ENSMUST00000169906] [ENSMUST00000169628]

AlphaFold

Q80TM9

Predicted Effect

unknown
Transcript: ENSMUST00000022469
AA Change: H717Q

SMART Domains

Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: H717Q

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART
PDB:4PQ8\|A	287	420	9e-8	PDB
SCOP:d1h6ta2	291	421	6e-29	SMART
Blast:LRR	311	332	5e-6	BLAST
Blast:LRR	333	355	6e-6	BLAST
Blast:LRR	378	403	5e-7	BLAST
Blast:LRR	403	429	6e-7	BLAST
low complexity region	489	501	N/A	INTRINSIC
low complexity region	517	534	N/A	INTRINSIC
coiled coil region	625	650	N/A	INTRINSIC
low complexity region	662	695	N/A	INTRINSIC
low complexity region	1038	1069	N/A	INTRINSIC
low complexity region	1081	1193	N/A	INTRINSIC
low complexity region	1491	1509	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163552

SMART Domains

Protein: ENSMUSP00000131689
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
low complexity region	96	127	N/A	INTRINSIC
low complexity region	139	242	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167223

Predicted Effect

probably benign
Transcript: ENSMUST00000167449

Predicted Effect

unknown
Transcript: ENSMUST00000168206
AA Change: H472Q

SMART Domains

Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: H472Q

Domain	Start	End	E-Value	Type
Pfam:LRR_8	44	101	3.9e-9	PFAM
Pfam:LRR_1	45	66	2.6e-2	PFAM
Pfam:LRR_6	88	109	1.1e-2	PFAM
Pfam:LRR_4	89	132	6.5e-8	PFAM
Pfam:LRR_1	90	109	6.9e-2	PFAM
Blast:LRR	133	158	4e-7	BLAST
Blast:LRR	158	184	6e-7	BLAST
low complexity region	244	256	N/A	INTRINSIC
low complexity region	272	289	N/A	INTRINSIC
coiled coil region	380	405	N/A	INTRINSIC
low complexity region	417	450	N/A	INTRINSIC
low complexity region	793	824	N/A	INTRINSIC
low complexity region	836	948	N/A	INTRINSIC
low complexity region	1246	1264	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169906

SMART Domains

Protein: ENSMUSP00000129268
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
coiled coil region	113	138	N/A	INTRINSIC
low complexity region	150	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169628

SMART Domains

Protein: ENSMUSP00000131465
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
low complexity region	231	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168451

SMART Domains

Protein: ENSMUSP00000132912
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
Pfam:PX	4	53	5.5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170253

SMART Domains

Protein: ENSMUSP00000129547
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
SCOP:d1dcea3	2	86	3e-11	SMART
Blast:LRR	13	34	1e-5	BLAST
Blast:LRR	35	60	1e-7	BLAST
Blast:LRR	60	86	2e-8	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for either a knock-out or hypomorphic allele exhibit hearing loss associated with increased susceptibility to otitis media. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,382,435 (GRCm39)	L271P	probably benign	Het
Adamts3	A	C	5: 89,923,280 (GRCm39)	D175E	probably benign	Het
Adcy4	T	C	14: 56,008,929 (GRCm39)	T833A	probably benign	Het
Adgrf5	A	T	17: 43,750,958 (GRCm39)	I508F	probably damaging	Het
Arhgap9	G	T	10: 127,163,593 (GRCm39)	V464L	probably damaging	Het
Atp10a	T	A	7: 58,474,182 (GRCm39)	D1156E	probably damaging	Het
Atp2a1	A	T	7: 126,049,314 (GRCm39)	M576K	probably benign	Het
Atrx	T	C	X: 104,891,235 (GRCm39)	Q1536R	probably damaging	Het
Ccdc141	A	C	2: 76,842,015 (GRCm39)	V1472G	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Celsr1	G	T	15: 85,916,886 (GRCm39)	N362K	probably damaging	Het
Cep290	G	A	10: 100,352,058 (GRCm39)	A755T	probably benign	Het
Cfap70	T	A	14: 20,445,067 (GRCm39)	E1071V	probably damaging	Het
Cps1	T	C	1: 67,248,801 (GRCm39)	V1176A	probably damaging	Het
Csf2rb2	A	C	15: 78,181,268 (GRCm39)	N41K	probably damaging	Het
Csn1s2a	G	A	5: 87,926,052 (GRCm39)	V43M	probably damaging	Het
Cyp26b1	T	C	6: 84,561,254 (GRCm39)	D136G	probably benign	Het
Cyp7b1	A	G	3: 18,151,616 (GRCm39)	L199P	probably benign	Het
Dapk1	C	T	13: 60,867,468 (GRCm39)	T225I	probably damaging	Het
Dio2	T	A	12: 90,696,680 (GRCm39)	T103S	probably benign	Het
Dipk1a	C	A	5: 108,057,713 (GRCm39)	V237F	probably damaging	Het
Dnhd1	T	A	7: 105,304,974 (GRCm39)	S339T	probably benign	Het
Drc1	A	G	5: 30,523,841 (GRCm39)	N737D	probably damaging	Het
Efhc1	C	T	1: 21,049,762 (GRCm39)	P541S	probably benign	Het
Elmo2	A	T	2: 165,134,077 (GRCm39)	I637N	probably damaging	Het
Eps15	T	A	4: 109,240,034 (GRCm39)	D492E	probably damaging	Het
Ermn	G	T	2: 57,938,249 (GRCm39)	N121K	probably benign	Het
F5	A	G	1: 164,021,100 (GRCm39)	T1192A	possibly damaging	Het
Fbxo22	T	C	9: 55,130,771 (GRCm39)	F347L	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Foxj3	A	G	4: 119,476,548 (GRCm39)	N242S	probably benign	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Grm4	A	G	17: 27,691,914 (GRCm39)	V235A	probably damaging	Het
Gstm4	T	C	3: 107,950,874 (GRCm39)	N74S	probably damaging	Het
Gtf3c3	A	G	1: 54,459,583 (GRCm39)	V393A	possibly damaging	Het
Hltf	T	A	3: 20,159,855 (GRCm39)	L702H	probably damaging	Het
Inpp4a	T	A	1: 37,432,059 (GRCm39)	V153E	possibly damaging	Het
Kmt5c	T	C	7: 4,745,729 (GRCm39)		probably null	Het
Kynu	A	G	2: 43,494,169 (GRCm39)	R201G	possibly damaging	Het
Lrp2	T	A	2: 69,333,874 (GRCm39)	T1456S	probably benign	Het
Lrrc40	G	A	3: 157,742,441 (GRCm39)	V19I	probably benign	Het
M1ap	T	A	6: 82,982,491 (GRCm39)	C258*	probably null	Het
Man2a1	T	C	17: 65,059,452 (GRCm39)	L1113P	probably benign	Het
Man2a1	C	T	17: 64,976,492 (GRCm39)	R427W	probably damaging	Het
Meikin	C	A	11: 54,308,613 (GRCm39)	Q404K	probably benign	Het
Mfsd4a	T	C	1: 131,981,334 (GRCm39)	I222V	possibly damaging	Het
N4bp2	A	G	5: 65,964,168 (GRCm39)	N739S	possibly damaging	Het
Ncoa2	A	T	1: 13,232,517 (GRCm39)		probably null	Het
Nmur2	A	G	11: 55,920,447 (GRCm39)	V266A	probably damaging	Het
Npcd	G	A	15: 79,712,987 (GRCm39)	R147C	probably damaging	Het
Or4q3	T	A	14: 50,583,537 (GRCm39)	M121L	probably benign	Het
Or5ac25	T	A	16: 59,182,243 (GRCm39)	I113F	probably benign	Het
Pals2	T	A	6: 50,173,525 (GRCm39)	M463K	probably damaging	Het
Parp4	A	T	14: 56,885,589 (GRCm39)	H1556L	unknown	Het
Pcdh9	G	T	14: 94,126,107 (GRCm39)	A21E	probably benign	Het
Phtf1	A	G	3: 103,903,958 (GRCm39)	E436G	probably benign	Het
Piezo2	C	A	18: 63,165,911 (GRCm39)		probably null	Het
Piezo2	T	C	18: 63,241,158 (GRCm39)	Y690C	probably damaging	Het
Pla2g4f	T	C	2: 120,141,549 (GRCm39)	R183G	possibly damaging	Het
Plxnd1	T	C	6: 115,971,018 (GRCm39)	D250G	probably damaging	Het
Ppig	A	G	2: 69,579,744 (GRCm39)	D426G	unknown	Het
Ppp3cb	T	C	14: 20,574,540 (GRCm39)	E185G	possibly damaging	Het
Qsox1	A	T	1: 155,670,364 (GRCm39)	M151K	probably null	Het
Ralgapa2	T	C	2: 146,184,648 (GRCm39)	E1453G	probably benign	Het
Rnf167	G	A	11: 70,540,838 (GRCm39)	V191I	probably benign	Het
Rp1	T	C	1: 4,419,055 (GRCm39)	K686E	possibly damaging	Het
Ryr1	T	G	7: 28,767,046 (GRCm39)	Q2979P	probably damaging	Het
Scaf1	T	A	7: 44,657,443 (GRCm39)	I479F	probably damaging	Het
Septin8	A	G	11: 53,425,310 (GRCm39)	T68A	probably benign	Het
Sh3rf1	A	T	8: 61,825,661 (GRCm39)	N552I	probably damaging	Het
Shoc1	A	T	4: 59,099,383 (GRCm39)	V103D	possibly damaging	Het
Slc1a3	A	G	15: 8,717,888 (GRCm39)	L68P	probably damaging	Het
Slc39a6	G	A	18: 24,718,524 (GRCm39)	P511L	probably benign	Het
Slc9c1	A	G	16: 45,374,652 (GRCm39)	Y339C	probably damaging	Het
Smarcal1	G	T	1: 72,625,120 (GRCm39)	C89F	probably damaging	Het
Smu1	A	T	4: 40,745,537 (GRCm39)	M261K	probably damaging	Het
Spag8	T	G	4: 43,653,087 (GRCm39)		probably benign	Het
Spag8	T	C	4: 43,653,345 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,851,216 (GRCm39)	D304G	probably benign	Het
Spdl1	A	T	11: 34,711,856 (GRCm39)	L298*	probably null	Het
Stac2	C	T	11: 97,930,444 (GRCm39)		probably null	Het
Stag1	A	G	9: 100,835,515 (GRCm39)		probably null	Het
Stpg2	C	T	3: 139,125,542 (GRCm39)	P445L	probably damaging	Het
Sult2a8	A	T	7: 14,157,451 (GRCm39)	V128E	probably damaging	Het
Synm	A	G	7: 67,385,707 (GRCm39)	F210L	probably damaging	Het
Tbck	C	G	3: 132,480,263 (GRCm39)	A714G	probably benign	Het
Tcerg1	A	T	18: 42,694,012 (GRCm39)	Y711F	possibly damaging	Het
Tnfrsf25	A	G	4: 152,201,465 (GRCm39)	T98A	probably benign	Het
Togaram2	T	C	17: 71,998,450 (GRCm39)	S218P	probably damaging	Het
Tpp1	A	T	7: 105,399,515 (GRCm39)	D84E	probably benign	Het
Trim30d	G	T	7: 104,132,682 (GRCm39)	Q202K	probably damaging	Het
Trim37	T	A	11: 87,068,845 (GRCm39)	V397E	probably damaging	Het
Triml1	A	T	8: 43,583,512 (GRCm39)	I363N	probably damaging	Het
Trpm6	T	A	19: 18,869,363 (GRCm39)		probably null	Het
Tsc2	T	C	17: 24,823,382 (GRCm39)	S1055G	probably benign	Het
Ubr5	T	C	15: 37,989,621 (GRCm39)	D2065G	probably damaging	Het
Uggt2	G	T	14: 119,269,688 (GRCm39)	P948Q	probably benign	Het
Vps13c	A	T	9: 67,851,399 (GRCm39)	S2345C	probably damaging	Het
Wtap	G	T	17: 13,199,771 (GRCm39)	R48S	possibly damaging	Het
Zbtb38	A	G	9: 96,570,934 (GRCm39)	V50A	probably damaging	Het
Zcchc2	T	A	1: 105,958,017 (GRCm39)	S829R	probably benign	Het
Zfp385b	T	C	2: 77,246,316 (GRCm39)	D237G	probably benign	Het

Other mutations in Nisch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Nisch	APN	14	30,898,596 (GRCm39)	unclassified	probably benign
IGL01934:Nisch	APN	14	30,898,696 (GRCm39)	unclassified	probably benign
IGL02201:Nisch	APN	14	30,909,051 (GRCm39)	unclassified	probably benign
IGL02964:Nisch	APN	14	30,902,769 (GRCm39)	unclassified	probably benign
IGL03340:Nisch	APN	14	30,895,101 (GRCm39)	missense	probably damaging	0.98
R0092:Nisch	UTSW	14	30,913,410 (GRCm39)	unclassified	probably benign
R0119:Nisch	UTSW	14	30,893,881 (GRCm39)	missense	probably damaging	1.00
R0196:Nisch	UTSW	14	30,925,351 (GRCm39)	unclassified	probably benign
R0299:Nisch	UTSW	14	30,893,881 (GRCm39)	missense	probably damaging	1.00
R0452:Nisch	UTSW	14	30,899,421 (GRCm39)	utr 3 prime	probably benign
R1529:Nisch	UTSW	14	30,902,895 (GRCm39)	unclassified	probably benign
R1643:Nisch	UTSW	14	30,895,125 (GRCm39)	missense	probably damaging	1.00
R1656:Nisch	UTSW	14	30,899,228 (GRCm39)	unclassified	probably benign
R1663:Nisch	UTSW	14	30,913,478 (GRCm39)	unclassified	probably benign
R1676:Nisch	UTSW	14	30,902,859 (GRCm39)	unclassified	probably benign
R1750:Nisch	UTSW	14	30,896,839 (GRCm39)	unclassified	probably benign
R1824:Nisch	UTSW	14	30,898,389 (GRCm39)	unclassified	probably benign
R1876:Nisch	UTSW	14	30,895,594 (GRCm39)	missense	probably damaging	1.00
R2107:Nisch	UTSW	14	30,894,097 (GRCm39)	missense	probably damaging	0.99
R2117:Nisch	UTSW	14	30,899,242 (GRCm39)	unclassified	probably benign
R2276:Nisch	UTSW	14	30,898,803 (GRCm39)	unclassified	probably benign
R2402:Nisch	UTSW	14	30,906,971 (GRCm39)	intron	probably benign
R3703:Nisch	UTSW	14	30,898,702 (GRCm39)	unclassified	probably benign
R3704:Nisch	UTSW	14	30,898,702 (GRCm39)	unclassified	probably benign
R3705:Nisch	UTSW	14	30,898,702 (GRCm39)	unclassified	probably benign
R3897:Nisch	UTSW	14	30,912,957 (GRCm39)	unclassified	probably benign
R4024:Nisch	UTSW	14	30,898,776 (GRCm39)	unclassified	probably benign
R4412:Nisch	UTSW	14	30,908,615 (GRCm39)	intron	probably benign
R4752:Nisch	UTSW	14	30,914,545 (GRCm39)	missense	probably damaging	1.00
R4832:Nisch	UTSW	14	30,899,587 (GRCm39)	utr 3 prime	probably benign
R5009:Nisch	UTSW	14	30,909,186 (GRCm39)	unclassified	probably benign
R5043:Nisch	UTSW	14	30,898,422 (GRCm39)	unclassified	probably benign
R5062:Nisch	UTSW	14	30,894,397 (GRCm39)	missense	probably damaging	0.99
R5254:Nisch	UTSW	14	30,928,524 (GRCm39)	splice site	probably null
R5754:Nisch	UTSW	14	30,913,373 (GRCm39)	unclassified	probably benign
R5906:Nisch	UTSW	14	30,893,985 (GRCm39)	splice site	probably null
R5930:Nisch	UTSW	14	30,895,102 (GRCm39)	missense	probably benign	0.11
R6246:Nisch	UTSW	14	30,894,516 (GRCm39)	missense	probably damaging	1.00
R6258:Nisch	UTSW	14	30,899,085 (GRCm39)	unclassified	probably benign
R6260:Nisch	UTSW	14	30,899,085 (GRCm39)	unclassified	probably benign
R6327:Nisch	UTSW	14	30,893,444 (GRCm39)	utr 3 prime	probably benign
R6671:Nisch	UTSW	14	30,926,420 (GRCm39)	unclassified	probably benign
R6874:Nisch	UTSW	14	30,898,641 (GRCm39)	unclassified	probably benign
R6887:Nisch	UTSW	14	30,907,301 (GRCm39)	unclassified	probably benign
R7273:Nisch	UTSW	14	30,896,364 (GRCm39)	missense	unknown
R7401:Nisch	UTSW	14	30,928,537 (GRCm39)	missense	probably benign	0.18
R7423:Nisch	UTSW	14	30,893,658 (GRCm39)	missense	probably benign	0.09
R7822:Nisch	UTSW	14	30,896,608 (GRCm39)	unclassified	probably benign
R7870:Nisch	UTSW	14	30,894,052 (GRCm39)	missense	probably damaging	1.00
R7887:Nisch	UTSW	14	30,898,652 (GRCm39)	nonsense	probably null
R8215:Nisch	UTSW	14	30,908,658 (GRCm39)	missense	possibly damaging	0.59
R8672:Nisch	UTSW	14	30,895,093 (GRCm39)	missense	probably damaging	1.00
R9082:Nisch	UTSW	14	30,899,331 (GRCm39)	missense	unknown
R9134:Nisch	UTSW	14	30,896,637 (GRCm39)	unclassified	probably benign
R9153:Nisch	UTSW	14	30,896,782 (GRCm39)	missense	unknown
R9240:Nisch	UTSW	14	30,906,988 (GRCm39)	missense	unknown
R9652:Nisch	UTSW	14	30,893,628 (GRCm39)	missense	probably damaging	1.00
R9653:Nisch	UTSW	14	30,893,628 (GRCm39)	missense	probably damaging	1.00
R9663:Nisch	UTSW	14	30,895,625 (GRCm39)	missense	probably damaging	1.00
R9667:Nisch	UTSW	14	30,895,646 (GRCm39)	missense	probably damaging	1.00
X0027:Nisch	UTSW	14	30,909,041 (GRCm39)	unclassified	probably benign
Z1177:Nisch	UTSW	14	30,899,395 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTGAGCACCAGACACAGCTC -3'
(R):5'- GTTGCTGAGAACCGCTACTTTG -3'

Sequencing Primer
(F):5'- ACACAGCTCGGGCATGAG -3'
(R):5'- CCGCTACTTTGAAATGGGACC -3'

Posted On

2014-06-23